Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Gm6309'

536251

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146167976-146170721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146168188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 305 (D305G)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174320]

AlphaFold

L7N481

Predicted Effect

probably damaging
Transcript: ENSMUST00000174320
AA Change: D305G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: D305G

Domain	Start	End	E-Value	Type
RasGEFN	65	181	3.29e-3	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	G	12: 112,632,704 (GRCm38)	D123G	probably benign	Het
Agbl4	A	G	4: 111,566,659 (GRCm38)	D294G	possibly damaging	Het
Apob	G	T	12: 8,015,995 (GRCm38)	M4288I	probably benign	Het
Arnt	T	G	3: 95,474,575 (GRCm38)	F160V	probably damaging	Het
Atp5a1	C	T	18: 77,775,840 (GRCm38)	R42*	probably null	Het
Bhlha15	A	G	5: 144,191,385 (GRCm38)	D105G	probably benign	Het
C6	A	G	15: 4,790,979 (GRCm38)	T491A	probably benign	Het
Caskin1	A	G	17: 24,504,179 (GRCm38)	E647G	probably benign	Het
Col11a2	A	G	17: 34,065,019 (GRCm38)	D1579G	unknown	Het
Dctn2	T	G	10: 127,276,236 (GRCm38)		probably null	Het
Eqtn	A	G	4: 94,927,021 (GRCm38)	V80A	probably damaging	Het
Etl4	A	G	2: 20,797,992 (GRCm38)		probably null	Het
Fam26e	G	C	10: 34,092,452 (GRCm38)	R202G	probably damaging	Het
Fbxo10	T	C	4: 45,041,787 (GRCm38)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,781,219 (GRCm38)	D445G	probably damaging	Het
Gm13762	T	C	2: 88,973,424 (GRCm38)	T156A	probably benign	Het
Grap2	G	A	15: 80,643,673 (GRCm38)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,328,444 (GRCm38)	A1439T	probably benign	Het
Krt5	G	A	15: 101,712,877 (GRCm38)		probably benign	Het
Lancl2	A	G	6: 57,722,657 (GRCm38)	I152M	possibly damaging	Het
Mast3	A	T	8: 70,786,592 (GRCm38)	C447*	probably null	Het
Mef2b	A	G	8: 70,166,307 (GRCm38)	I180V	probably benign	Het
Mon1b	T	C	8: 113,642,065 (GRCm38)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,911,644 (GRCm38)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 25,943,522 (GRCm38)	Q84*	probably null	Het
Nlk	A	G	11: 78,590,948 (GRCm38)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,923,520 (GRCm38)	I513T	probably benign	Het
Olfr134	A	T	17: 38,175,368 (GRCm38)	M95L	probably benign	Het
Olfr340	A	T	2: 36,453,496 (GRCm38)	I304F	probably benign	Het
Panx1	A	T	9: 15,010,217 (GRCm38)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 109,010,335 (GRCm38)		probably null	Het
Setbp1	A	G	18: 78,859,559 (GRCm38)	S298P	probably benign	Het
Sh3bgr	A	C	16: 96,206,491 (GRCm38)	K19Q	probably damaging	Het
Slc35c2	T	C	2: 165,282,809 (GRCm38)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,691,957 (GRCm38)	D321E	probably benign	Het
Stab2	A	G	10: 86,861,366 (GRCm38)		probably null	Het
Sulf2	T	A	2: 166,089,275 (GRCm38)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,625,386 (GRCm38)	I96L	probably benign	Het
Sv2b	A	G	7: 75,206,206 (GRCm38)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,840,980 (GRCm38)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,145,113 (GRCm38)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,456 (GRCm38)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,444,723 (GRCm38)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,246,276 (GRCm38)	N266K	probably damaging	Het
Uri1	A	T	7: 37,965,339 (GRCm38)	D309E	probably benign	Het
Zfhx3	C	T	8: 108,800,641 (GRCm38)	R1057W	probably damaging	Het

Other mutations in Gm6309

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Gm6309	APN	5	146,168,411 (GRCm38)	missense	probably benign	0.02
IGL01835:Gm6309	APN	5	146,168,275 (GRCm38)	missense	probably damaging	0.99
FR4737:Gm6309	UTSW	5	146,168,183 (GRCm38)	missense	probably benign
FR4976:Gm6309	UTSW	5	146,168,183 (GRCm38)	missense	probably benign
R1513:Gm6309	UTSW	5	146,170,583 (GRCm38)	missense	possibly damaging	0.83
R2022:Gm6309	UTSW	5	146,168,311 (GRCm38)	missense	probably benign
R2191:Gm6309	UTSW	5	146,168,871 (GRCm38)	missense	possibly damaging	0.93
R4735:Gm6309	UTSW	5	146,168,244 (GRCm38)	missense	probably damaging	0.99
R5719:Gm6309	UTSW	5	146,168,182 (GRCm38)	missense	probably benign	0.01
R5776:Gm6309	UTSW	5	146,168,881 (GRCm38)	missense	possibly damaging	0.80
R5833:Gm6309	UTSW	5	146,168,318 (GRCm38)	missense	probably damaging	1.00
R6246:Gm6309	UTSW	5	146,170,240 (GRCm38)	missense	probably damaging	1.00
R6373:Gm6309	UTSW	5	146,170,275 (GRCm38)	missense	probably damaging	0.97
R6912:Gm6309	UTSW	5	146,168,830 (GRCm38)	missense	probably damaging	0.97
R6954:Gm6309	UTSW	5	146,168,490 (GRCm38)	missense	possibly damaging	0.82
R7145:Gm6309	UTSW	5	146,170,290 (GRCm38)	missense	possibly damaging	0.74
R7258:Gm6309	UTSW	5	146,168,296 (GRCm38)	missense	probably benign	0.07
R7535:Gm6309	UTSW	5	146,168,290 (GRCm38)	missense	probably damaging	1.00
R8885:Gm6309	UTSW	5	146,168,293 (GRCm38)	missense	probably damaging	1.00
R8941:Gm6309	UTSW	5	146,170,345 (GRCm38)	missense	probably damaging	0.98
R9577:Gm6309	UTSW	5	146,168,890 (GRCm38)	missense	possibly damaging	0.74
R9668:Gm6309	UTSW	5	146,168,216 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAAATCTTTGGTGCAGTCCATG -3'
(R):5'- AGCCACAATAGAGCTGCCTC -3'

Sequencing Primer
(F):5'- CTTTGGTGCAGTCCATGGGTAAAAC -3'
(R):5'- AGAGCTGCCTCTGTCTTTACATCAAG -3'

Posted On

2018-10-18